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Discovering the causes of cancer and the means of prevention

Confluence Project

The Confluence project will develop a large research resource to uncover breast cancer genetics through genome-wide association studies (GWAS). The resource will include at least 300,000 breast cancer cases and 300,000 controls of different races/ethnicities. This will be accomplished by the confluence of existing GWAS and new genome-wide genotyping data to be generated through this project.

Broad scientific aims that can be addressed through this resource include:

  1. To discover susceptibility loci and advance knowledge of etiology of breast cancer overall and by subtypes.
  2. To develop polygenic risk scores and integrate them with known risk factors for personalized risk assessment for breast cancer overall and by subtypes. 
  3. To discover loci for breast cancer prognosis, long-term survival, response to treatment, and second breast cancer. 

Eligibility criteria

To be eligible to participate, studies with cases of in situ or invasive breast cancer (females or males) must have:

  • Genome-wide genotyping data or germline DNA for genotyping, i.e.:
    • existing genome-wide genotyping data, or
    • germline DNA available for new genotyping, or
    • blood/buccal samples for germline DNA isolation and genotyping.
  • Basic phenotype data (e.g. age at diagnosis, gender, family history of breast cancer)
  • Appropriate ethics approval for genetic studies and data sharing

For more details on Confluence and how studies can participate, please refer to the:

Please contact the project manager, Thomas Ahearn, at if you are interested in participating in Confluence.

Confluence is supported by NCI Intramural Research funds.

Integrative Tumor Epidemiology Branch- Research Areas